Inventaire - your friends and communities are your best library

Advancing epilepsy genetics in the genomic era

author

Heather C. Mefford

published in: Genome Medicine

date of publication: 2015-08-25

language: English

main subject: epilepsy

Cites articles 143

Date

Title

Authors

2015

The eEF1A Proteins: At the Crossroads of Oncogenesis, Apoptosis, and Viral Infections

Georges Herbein, Wasim Abbas, Amit Kumar
2015-02-11

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Deepak Gill, Dana Craiu, Rhys H Thomas, Samuel Berkovic, Ingrid Scheffer, Heather C. Mefford
2015-05

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

Claudia Schurmann, Peter De Jonghe, Christian Gieger, Ulrich Stephani, Hiltrud Muhle, Dorothée Kasteleijn-Nolst Trenité, Felix Rosenow, Holger Trucks, Dick Lindhout, Verena Gaus, Ingo Helbig, Rainer Surges, Peter Nürnberg, Holger Lerche, Helle Hjalgrim, Ann-Kathrin Ruppert, Martha Feucht, Fritz Zimprich, Claudia Kapser, Arvid Suls, Karl Martin Klein, Carolien G de Kovel, Wolfram S. Kunz, Rikke S Møller, Konstantin Strauch, Andre Franke, Bobby Koeleman, Dennis Lal, Christian E Elger, Bernd Neubauer, Wolf Lieb, Christoph J Schankin, Eva Reinthaler
2015-07-01

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
2015-05-27

Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.

Yoshinori Tsurusaki, Hirotomo Saitsu, Mitsuhiro Kato, Hirohide Takebayashi
2015-04-09

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

Federico Zara, Ingrid Scheffer, Rikke S Møller, Sarah Weckhuysen, Heather C. Mefford, Samuel Berkovic, Jacinta M McMahon, Amy L Schneider, Angela Robbiano, Pasquale Striano, Gemma L Carvill, Marina Nikanorova, Steven Petrou
2015-04-01

mTOR signaling in epilepsy: insights from malformations of cortical development
2015-03-17

CHD2 variants are a risk factor for photosensitivity in epilepsy

Anna-Elina Lehesjoki, Camila V Esguerra, Roland Krause, Peter Nürnberg, Ingrid Scheffer, Aarno Palotie, Rikke S Møller, Alexander D Crawford, Lynette Sadleir, Holger Thiele, Janine Altmüller, Heather C. Mefford, Samuel Berkovic
2015-03-09

De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

Anna-Elina Lehesjoki, Ludger Schöls, Matthis Synofzik, Bridget H Maher, Astrid Bertsche, Dana Craiu, Roland Krause, Michael Nothnagel, Patrick May, Sarah Weckhuysen, Wieland Kiess, Aarno Palotie, Rikke S Møller, Rebecca Schüle, Stephan Züchner, Dorota Hoffman-Zacharska
2015-02-26

Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia

Jay Shendure, Harry V Vinters, Christopher A. Walsh, Gary W Mathern, Annapurna Poduri
2015-01-07

The phenotypic spectrum of SCN8A encephalopathy

Niels Tommerup, Helle Hjalgrim, Jacinta M McMahon, Deepak Gill, Elena Gardella, Ingrid Scheffer, Sarah Weckhuysen, Nicola Specchio, Rikke S Møller, Renzo Guerrini, Heather C. Mefford, Kees P Braun, Christel Depienne, Gemma L Carvill, Gerhard Kluger, Eva Brilstra, Birgit Jepsen, Miriam Döcker, Saskia Biskup, Markus Wolff, Carolien G de Kovel, Tania Djémié, Bobby Koeleman, Andrea Bevot
2015-03-23

Brain somatic mutations in MTOR cause focal cortical dysplasia type II leading to intractable epilepsy

Se Hoon Kim, Heung Dong Kim, Hoon-Chul Kang
2015-01-25

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability

Laurent Villard
2015-03-01

Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits

Francesco Miceli, Maria Virginia Soldovieri, Paolo Ambrosino, Rosanna Migliore, Maurizio Taglialatela, Michele Migliore
2015-03-13

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Stéphanie Baulac, Mihaela Vlaicu, Patrick Cossette
2014-10

De novo mutations in moderate or severe intellectual disability

Guy A. Rouleau, Alexandre Dionne-Laporte, Amirthagowri Ambalavanan, Dan Spiegelman, Jacques L. Michaud, Myriam Srour, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Ousmane Diallo, Alexey V Pshezhetsky
2014-10-02

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
2014-11

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy

Carolien G de Kovel
2014-04-22

CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

Stephen W. Scherer
2014-10-16

Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

Eric Boerwinkle, James R. Lupski, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, Klaas J. Wierenga
2014-11-24

Recurrent de novo mutations implicate novel genes underlying simplex autism risk

Jay Shendure
2014-11-17

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel Berkovic, Leanne Dibbens, Karen Oliver, Marta A Bayly, Laura Canafoglia, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S. Hildebrand, Antonio Gambardella, Paolo Tinuper, Ingrid Scheffer, Jamil Ahmad, Edith Said, João Massano, Brice Kauffmann, Rikke S Møller, Kaitlin E Samocha, Mark Joseph Daly
2014-11-02

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

Patrick May, Gustavo Glusman, Karin Jurkat-Rott, Leroy Hood, Almuth Caliebe, Helle Hjalgrim, Camila V Esguerra, Peter Nürnberg, Rudi Balling, Sarah Weckhuysen, Rikke S Møller, Alexander D Crawford, Franz Rüschendorf, Holger Thiele, David J Galas
2014-10-26

Common variants associated with general and MMR vaccine-related febrile seizures

Mads Melbye, Björn Pasternak, Anders Hviid, Frank Geller, Lily Jan, Mads Vilhelm Hollegaard, Bjarke Feenstra, Mogens Vestergaard
2014-10-23

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability

Cas Simons
2014-09-19

De novo KCNB1 mutations in epileptic encephalopathy

Jennifer A. Kearney
2014-08-01

Somatic mutations in cerebral cortical malformations.

Martin Kircher, Jay Shendure, Bhaven K Mehta, Xiaochang Zhang, Elena Parrini, Timothy W Yu, Ingrid Scheffer, Mustafa Sahin, Bernard Dan, Samuel Berkovic, Christopher A. Walsh, Renzo Guerrini, Deborah A Nickerson, Annapurna Poduri, Michael J Bamshad
2014-07-30

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Mark McCormack, Federico Zara, Stacey S. Cherny, Thomas Ferraro, Krishna Chinthapalli
2014-07-01

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life

Damien Sanlaville, Annick Toutain, Anne de Saint-Martin, Laurent Villard, Delphine Héron, Laurence Faivre, Christel Thauvin-Robinet, Agathe Roubertie
2014-06-05

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation

Kenneth Myers, Jeremy Schwartzentruber, Kym M Boycott, Jacek Majewski, FORGE Canada, Chandree L Beaulieu, Dennis E Bulman
2014-03-01

GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine

John M Schreiber, Dimitre R Simeonov, James C Mullikin
2014-05-14

Towards the identification of a genetic basis for Landau-Kleffner syndrome

Paul A McGettigan, Sean Ennis

Article - wd:Q26798035

Welcome to Inventaire

the library of your friends and communities

learn more